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Dyssegmental dysplasia: a case report of a Rolland-Desbuquois type
M C d'Orey1, M Mateus, H Guimarães
1Neonatal Intensive Care Unit, Department of Paediatrics, Hospital of S. Jõao, Oporto Medical School, Porto, Portugal.
Abstract:
Two different forms of dyssegmental dysplasia, mild and severe, can be distinguished on clinical, radiographic and chondro-osseous morphologic grounds. The milder Rolland-Desbuquois type is frequently characterised by survival beyond the newborn period. The lethal Silverman-Handmaker type has distinctive and more severe findings. In this paper, a rare case of the Rolland-Desbuquois type is presented. The case is unusual because although it was the milder form, the child died on the 10th day of life.
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